Thalassemia Major

New research on alpha-thalassemia from University of Malaya, Medical Department summarized

Thalassemia Major Library Library Home This article was published in Hematology Week, which you can subscribe to online.

"The co-inheritance of beta-thalassemia with a-thalassemia with a single gene deletion (-alpha/alpha) is usually associated with thalassemia major. In contrast, the co-inheritance of beta-thalassemia with two alpha-genes deleted in cis or trans (--/alpha alpha or -alpha/-alpha) generally produces beta-thalassemia intermedia. In Southeast Asia, the most common defect responsible for alpha-thalassemia is the Southeast Asian (SEA) deletion of 20.5 kilobases. The presence of the SEA deletion with Hb Constant Spring (HbCS) produces HbH-CS disease. Co-inheritance of HbH-CS with compound heterozygosity for beta-thalassemia is very rare. This study presents a Malay patient with HbH-CS disorder and beta degrees/beta(+)-thalassemia. The SEA deletion was confirmed in the patient using a duplex-PCR. A Combine-Amplification Refractory Mutation System (C-ARMS) technique to simultaneously detect HbCS and Hb Quong Sze confirmed HbCS in the patient. Compound heterozygosity for CD41/42 and Poly A was confirmed using the ARMS. This is a unique case as the SEA a-gene deletion in cis (--(SEA)/alpha) is generally not present in the Malays, who more commonly posses the two a-gene deletion in trans In addition, the beta-globin gene mutation at CD41/42 is a common mutation in the Chinese and not in the Malays," wrote J.A.M.A. Tan and colleagues, University of Malaya, Medical Department.

The researchers concluded: "The presence of both the SEA deletion and CD41/42 in the mother of the patient suggests the possible introduction of these two defects into the family by marriage with a Chinese."

Tan and colleagues published their study in Genes & Genetic Systems (Thalassemia intermedia in HbH-CS disease with compound heterozygosity for beta-thalassemia: Challenges in hemoglobin analysis and clinical diagnosis. Genes & Genetic Systems, 2009;84(1):67-71).

For additional information, contact J.A.M.A. Tan, University of Malaya, Faculty Medical, Dept. of Molecular Medical, Kuala Lumpur, Malaysia.

Publisher contact information for the journal Genes & Genetic Systems is: Genetics Society Japan, National Institute Genetics, Yata, Mishima, Shizuoka, 411, Japan.

Keywords: Malaysia, Kuala Lumpur, Alpha-thalassemia, Beta-Thalassemia, Genetics, Hematology, Thalassemia, University of Malaya, Medical Department.

This article was prepared by Hematology Week editors from staff and other reports. Copyright 2009, Hematology Week via NewsRx.com.